Detalhe da pesquisa
1.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
J Med Genet
; 61(5): 411-419, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290824
2.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533184
3.
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
PLoS Genet
; 15(8): e1008315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425546
4.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet
; 99(3): 770-776, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588451
5.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
6.
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Genet Med
; 20(9): 1004-1012, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300381
7.
acr-23 Encodes a monepantel-sensitive channel in Caenorhabditis elegans.
PLoS Pathog
; 9(8): e1003524, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23950710
8.
The «Amish¼ NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Eur J Med Genet
; 65(12): 104627, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162733
9.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun
; 12(1): 518, 2021 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483490
10.
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Sci Rep
; 11(1): 19332, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588515
11.
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Sci Rep
; 10(1): 19413, 2020 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173045
12.
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
Invest Ophthalmol Vis Sci
; 60(7): 2764-2772, 2019 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31247083
13.
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Sci Rep
; 5: 10200, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988833